Reactome | F12 T328R(20-328) [extracellular region]

Schema > EntityWithAccessionedSequence > Entries

compartment	[Compartment:984] extracellular region
created	[InstanceEdit:9653244] Shamovsky, Veronica, 2019-07-11
crossReference	[DatabaseIdentifier:12020813] Mondo:0019623 [DatabaseIdentifier:9674125] ClinGen:CA114819
dbId	9653225
disease	[Disease:9653241] hereditary angioedema
displayName	F12 T328R(20-328) [extracellular region]
endCoordinate	328
hasModifiedResidue	[ReplacedResidue:9653237] L-threonine 328 replaced with L-arginine
inDisease	true
maxDepth	1
memberOf	[DefinedSet:R-HSA-9653235] F12 variant (20-328) [extracellular region] - Homo sapiens
modified	[InstanceEdit:9674123] Shamovsky, Veronica, 2020-01-10
name	F12 T328R(20-328) Hageman factor T328R(20-328) factor XII T328R(20-328)
referenceEntity	[ReferenceGeneProduct:uniprot:P00748] UniProt:P00748 F12
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-9653225
startCoordinate	20

(hasMember)

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